RASopathiesNCT07464821
National Multicentre Study on Lipid Profile in Noonan Syndrome and Related Disorders: Trends by Age, Gender and Genotype
An observational study of RASopathies and Noonan Syndrome, run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 14 sites in Italy.
Trial summary
RASopathies, including Noonan syndrome, involve dysmorphisms, metabolic alterations, and an unfavorable lipid profile. This study investigates lipid and glucose metabolism to improve patient care. Read more about this study
- Who is it for?
- Ages 2 to 35 years
- Conditions the study is for
- RASopathies, Noonan Syndrome
- How many people
- 200 participants
- Where
- 14 sitesItaly
- Study dates
- 26 Feb 2025to 26 Apr 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 35 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Patients with molecularly confirmed RASopathy and a follow-up of at least 2 years at the participating centers as of 31/12/2024.
Who may be able to join
- Clinically diagnosed RASopathy confirmed by molecular testing;
- Patients referred to participating centers between 01/01/2001 and 31/12/2022;
- Age at enrollment between 2 and 35 years, inclusive;
- Obtaining informed consent.
Who cannot join
- None.
Trial locations and contacts
14 sites in 1 country. Contact the study team or a site near you to ask about taking part.
14 sites in 1 country
Italy14 sites, 14 recruiting
- Not yet recruiting
Azienda Ospedaliero-Universitaria di Alessandria
Alessandria
Andrea Secco, asecco@ospedale.al.it
- Not yet recruiting
AOU Policlinico di Bari
Bari
Maria Felicia Faienza, mariafelicia.faienza@uniba.it
- Recruiting
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna
Federica Tamburrino, 00390512143723, federica.tamburrino@aosp.bo.it
- Recruiting
AOU Meyer IRCCS
Florence
Stefano Stagi, stefano.stagi@unifi.it
- Recruiting
IRCCS Istituto Giannina Gaslini
Genova
Giuseppa Patti, giuseppapatti@gaslini.org
- Not yet recruiting
AOU Policlinico G. Martino
Messina
Malgorzata Wasniewska, malgorzata.wasniewska@unime.it
- Not yet recruiting
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Milan
Claudia Giavoli, claudia.giavoli@gmail.com
- Not yet recruiting
IRCCS Ospedale San Raffaele
Milan
Gabriella Pozzobon, pozzobon.gabriella@hsr.it
- Not yet recruiting
Azienda Ospedaliera Policlinico di Modena
Modena
Simona Filomena Madeo, simonamadeo@hotmail.com
- Not yet recruiting
Fondazione IRCCS San Gerardo dei Tintori
Monza
Alessandro Cattoni, alessandro.cattoni@unimib.it
- Not yet recruiting
AOU Vanvitelli
Naples
Anna Grandone, agrandone@gmail.com
- Not yet recruiting
Azienda Ospedale-Università di Padova
Padova
Laura Guazzarotti, guazza@yahoo.com
- Not yet recruiting
Azienda Ospedaliero-Universitaria di Parma
Parma
Maria Elisabeth Street, mariaelisabeth.street@unipr.it
- Not yet recruiting
AOUI-VR Azienda Ospedaliero-Universitaria Integrata di Verona
Verona
Rossella Gaudino, rossella.gaudino@univr.it
About this study
RASopathies, including Noonan syndrome, involve dysmorphisms, metabolic alterations, and an unfavorable lipid profile. This study investigates lipid and glucose metabolism to improve patient care.
Read the detailed description
RASopathies are a group of congenital malformative syndromes, including Noonan syndrome and related disorders, characterized by dysmorphisms, cardiac defects, skeletal anomalies, cognitive involvement, and a variable predisposition to pediatric cancers. They share dysregulation of the RAS-MAPK pathway and exhibit altered energy metabolism, with reduced adiposity and feeding difficulties. Preliminary studies suggest an unfavorable lipid profile, with low total cholesterol and HDL, varying by sex, age, and genotype. This multicenter study aims to further investigate lipid and glucose metabolism in patients with RASopathies to better define the natural history of the disease and support clinical management.
- Conditions
- RASopathies, Noonan Syndrome
- Medical subject headings
- Noonan Syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
To assess whether the lipid profile of patients with RASopathy varies according to sex (male/female), age (pre/post-pubertal), and genotype
total, HDL, LDL cholesterol and triglycerides (mg/dL)
Measured: V0 - baseline; V1 - 1 year; V2 - 2 years; V3 - 5 years; V4 - 10 years.
Secondary outcomes (2)
To assess whether glucose metabolism in patients with RASopathy varies according to sex (male/female), age (pre/post-pubertal), and genotype
Insulin and blood glucose (mg/dL)
Measured: V0 - baseline; V1 - 1 year; V2 - 2 years; V3 - 5 years; V4 - 10 years.
To determine whether altered lipoprotein levels, compared to the general population as reported in the literature, are associated with altered apo-B and apo-A1 levels in the different forms of RASopathy
ApoA1-B (mg/dl)
Measured: V0 - baseline; V1 - 1 year; V2 - 2 years; V3 - 5 years; V4 - 10 years.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Mar 2026
- Study start26 Feb 2025
- Primary completion26 Feb 2027 (estimated)
- Study completion26 Apr 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for RASopathiesStudies of the same condition, open and under way.
- More trials run by IRCCS Azienda Ospedaliero-Universitaria di BolognaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 200 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Federica Tamburrino, IRCCS Azienda Ospedaliero-Universitaria di Bologna
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07464821
- Sponsor's protocol ID
- Noonan2024
- Status last verified
- Nov 2025
- First submitted
- 25 Feb 2026
- Last updated
- 11 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 11 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- National Multicentre Study on Lipid Profile in Noonan Syndrome and Related Disorders: Trends by Age, Gender and Genotype
- ClinicalTrials.gov ID
- NCT07464821
- Acronym / sponsor ID
- Noonan2024
- Conditions
- RASopathies, Noonan Syndrome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 200 participants (estimated)
- Lead sponsor
- IRCCS Azienda Ospedaliero-Universitaria di BolognaUniversity, hospital or other
- Study start
- 26 Feb 2025 (actual)
- Primary completion
- 26 Feb 2027 (estimated)
- Study completion
- 26 Apr 2027 (estimated)
- First posted
- 11 Mar 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
RASopathies, including Noonan syndrome, involve dysmorphisms, metabolic alterations, and an unfavorable lipid profile. This study investigates lipid and glucose metabolism to improve patient care.
Detailed description
RASopathies are a group of congenital malformative syndromes, including Noonan syndrome and related disorders, characterized by dysmorphisms, cardiac defects, skeletal anomalies, cognitive involvement, and a variable predisposition to pediatric cancers. They share dysregulation of the RAS-MAPK pathway and exhibit altered energy metabolism, with reduced adiposity and feeding difficulties. Preliminary studies suggest an unfavorable lipid profile, with low total cholesterol and HDL, varying by sex, age, and genotype. This multicenter study aims to further investigate lipid and glucose metabolism in patients with RASopathies to better define the natural history of the disease and support clinical management.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- 2 to 35 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Patients with molecularly confirmed RASopathy and a follow-up of at least 2 years at the participating centers as of 31/12/2024.
Key inclusion criteria (4 listed)
- Clinically diagnosed RASopathy confirmed by molecular testing;
- Patients referred to participating centers between 01/01/2001 and 31/12/2022;
- Age at enrollment between 2 and 35 years, inclusive;
- Obtaining informed consent.
Key exclusion criteria (1 listed)
- None.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To assess whether the lipid profile of patients with RASopathy varies according to sex (male/female), age (pre/post-pubertal), and genotype
Time frame: V0 - baseline; V1 - 1 year; V2 - 2 years; V3 - 5 years; V4 - 10 years.
total, HDL, LDL cholesterol and triglycerides (mg/dL)
2 secondary outcomes
To assess whether glucose metabolism in patients with RASopathy varies according to sex (male/female), age (pre/post-pubertal), and genotype
Time frame: V0 - baseline; V1 - 1 year; V2 - 2 years; V3 - 5 years; V4 - 10 years.
To determine whether altered lipoprotein levels, compared to the general population as reported in the literature, are associated with altered apo-B and apo-A1 levels in the different forms of RASopathy
Time frame: V0 - baseline; V1 - 1 year; V2 - 2 years; V3 - 5 years; V4 - 10 years.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 11 Mar 2026.
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Clinical Genetics Branch Eligibility Screening Survey
Melanoma, Li-Fraumeni Syndrome
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Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies
Costello Syndrome, Noonan Syndrome
RecruitingObservational study
RASopathy Biorepository
RAS Mutation, Neurofibromatosis 1
RecruitingPhase 2
MEK Inhibitors for the Treatment of Hypertrophic Cardiomyopathy in Patients With RASopathies
Cardiomegaly, Noonan Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
14 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of RASopathies and Noonan Syndrome, run by IRCCS Azienda Ospedaliero-Universitaria di Bologna at 14 sites in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 11 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 14 sites in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Federica Tamburrino (00390512143723, federica.tamburrino@aosp.bo.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To assess whether the lipid profile of patients with RASopathy varies according to sex (male/female), age (pre/post-pubertal), and genotype (time frame: V0 - baseline; V1 - 1 year; V2 - 2 years; V3 - 5 years; V4 - 10 years.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 11 Mar 2026.